scholarly journals Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

2020 ◽  
Vol 8 (8) ◽  
pp. 1461-1466 ◽  
Author(s):  
Evy Vervecken ◽  
Bettina Blaumeiser ◽  
Tina Vanderheyden ◽  
Jan Hauspy ◽  
Katrien Janssens
Keyword(s):  
Prenatal Diagnosis ◽  
Added Value ◽  
Terminal Deletion ◽  
Chromosome 13

scholarly journals Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin

2021 ◽  
Vol 60 (4) ◽  
pp. 771-774
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Schu-Rern Chern ◽  
Shin-Wen Chen ◽  
Fang-Tzu Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Maternal Origin ◽  
Chromosome 13

Use of Bayes' Formula to Make a Genetic Risk Estimate

2011 ◽  
Vol 14 (4) ◽  
pp. 340-342
Author(s):  
Alan Stark ◽  
Graeme Morgan
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Risk ◽  
Prior Probability ◽  
Chromosome Abnormality ◽  
Genetic Diagnosis ◽  
Risk Estimate ◽  
Bayesian Estimate ◽  
Chromosome 13 ◽  
Amount Of Information ◽  
Bayes Formula

Izabella and her partner sought pre-implantation genetic diagnosis (PGD) because Izabella had retinoblastoma due to a deletion in chromosome 13 and they want to have children not at genetic risk of retinoblastoma. Fortunately, Izabella's tumor was unilateral and was treated successfully and she is well. Izabella's chromosome abnormality is mosaic with 70% of lymphocytes having the deletion. This mosaicism may not be present in Izabella's ovaries. The couple went through PGD on two occasions and 13 embryos were tested. None had the deleted chromosome 13. IVF and PGD failed to produce a pregnancy. The couple wished to know what the experience provides as to the risk to their offspring: in particular, does it indicate a risk low enough to be acceptable if they go ahead with a natural pregnancy instead of another resort to PGD? Also, the couple did not want prenatal diagnosis. The situation therefore requires an estimate of the probability that an embryo will have the deletion. Counseling is problematic because there is no obvious way of selecting a prior probability from which to compute a Bayesian estimate of risk. Two solutions are offered, depending on the amount of information available about genes transmitted from the maternal grandparents.

scholarly journals Added value of MRI for the prenatal diagnosis of isolated orofacial clefts and comparison with ultrasound

2016 ◽  
Vol 97 (9) ◽  
pp. 915-921 ◽  
Author(s):  
A. Dabadie ◽  
E. Quarello ◽  
N. Degardin ◽  
R. Desbriere ◽  
H. Heckenroth ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Added Value ◽  
Orofacial Clefts

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Gene ◽  
2013 ◽  
Vol 529 (1) ◽  
pp. 163-168 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chin-Han Tsai ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Jun-Wei Su ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Prenatal diagnosis of a largede novo terminal deletion of chromosome 11q

2006 ◽  
Vol 26 (3) ◽  
pp. 286-290 ◽  
Author(s):  
D. Bœhm ◽  
F. Laccone ◽  
P. Burfeind ◽  
S. Herold ◽  
C. Schubert ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Terminal Deletion

Clotting factors VII and X as useful markers of terminal deletion of chromosome 13

1985 ◽  
Vol 69 (2) ◽  
pp. 192-192 ◽  
Author(s):  
R. A. Pfeiffer ◽  
R. Ott ◽  
K. D. Taben
Keyword(s):  
Terminal Deletion ◽  
Clotting Factors ◽  
Chromosome 13

scholarly journals Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Jiasun Su ◽  
Huayu Fu ◽  
Bobo Xie ◽  
Weiliang Lu ◽  
Wei Li ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Snp Array ◽  
Nasal Bone ◽  
Hydrops Fetalis ◽  
Terminal Deletion ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Cri Du Chat Syndrome ◽  
Definitive Method ◽  
Hypoplastic Nasal Bone

Abstract Background Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China. Case presentation A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order. Conclusion Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly

2001 ◽  
Vol 21 (2) ◽  
pp. 102-105 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Chen-Chi Lee ◽  
Wen-Lin Chen ◽  
Wayseen Wang
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 13
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